The Medical Genome Initiative has launched a webinar series to discuss relevant literature and hot topics around whole-genome sequencing (WGS) for rare disease. Presenters will review recent publications and hot topics and discuss complex cases where WGS played a valuable role in patient care.

August 9, 2023:  Link to Recording   Passcode: 05B?$TEbd&

  • Title: Genome Sequencing for the Diagnosis of Rare Disease: Momentum in Access & Policy Change
  • Speakers: Jessie Conta, PLUGS;  Theresa Andrews, Illumina and Vaidehi Jobanputra, NY Genome Center

October 2022: Link to Recording  Passcode: LG1Qvt.#..

  • Title: Considerations for Next-Generation Sequencing Reanalysis
  • Speakers: Pei Dai, MD, PhD and Jerica Lenberg, MS, LCGC

May 2022: Link to Recording Passcode: .w3QJpKJZs

  • Title: Best Practices for Whole-Genome Sequencing Interpretation and Reporting
  • Speakers: Christine Austin-Tse, PhD and Amanda Thomas-Wilson, PhD, FACMG

March 2022: Link to Recording Passcode:  : r.T^aF4FD3

  • Title: Discussion of real-world evidence demonstrating significant underutilization of genetic testing in children with suspected genetic disease and the role of the genetics community to improve utilization.
  • Speakers: Brock Schroeder, PhD, Elizabeth Spiteri, PhD, and Robin Hayeems, PhD

October 2021: No Link Available

  • Title: Review of the American College of Medical Genetics and Genomics Evidence-Based Guideline: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
  • Speakers: Shashikant Kulkarni, MS, PhD, FACMG and Carolyn Brown, MS, LCGC

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